Linked Data
ClinVar Variation Id:
218369
dbSNP Id:
rs148438059
ExAC:
15:63619433 C / T
gnomAD v2:
15-63619433-C-T
gnomAD v3:
15-63327234-C-T
gnomAD v4:
15-63327234-C-T
PubMed:
PMID:26911677
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.63327234C>T , CM000677.2:g.63327234C>T | GRCh38 |
| NC_000015.9:g.63619433C>T , CM000677.1:g.63619433C>T | GRCh37 |
| NC_000015.8:g.61406486C>T | NCBI36 |
| NG_028022.1:g.59643G>A | |
| NG_028022.2:g.59933G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000178638.8:c.908-1G>A MANE Select | ENSP00000178638.3:n.908-1G>A | |
| ENST00000178638.7:c.908-1G>A | ENSP00000178638.3:n.908-1G>A | |
| ENST00000344366.7:c.875-1G>A | ENSP00000343088.3:n.875-1G>A | |
| ENST00000422263.2:c.695-1G>A | ENSP00000403028.2:n.695-1G>A | |
| ENST00000560666.1:n.118-1G>A | ||
| NM_001218.4:c.908-1G>A | NP_001209.1:n.908-1G>A | |
| NM_001293642.1:c.695-1G>A | NP_001280571.1:n.695-1G>A | |
| NM_206925.2:c.875-1G>A | NP_996808.1:n.875-1G>A | |
| XR_932358.1:n.767+8480C>T | ||
| NR_135511.1:n.1368-1G>A | ||
| NM_001218.5:c.908-1G>A MANE Select | NP_001209.1:n.908-1G>A | |
| NR_135511.2:n.1048-1G>A | ||
| NM_001293642.2:c.695-1G>A | NP_001280571.1:n.695-1G>A | |
| NM_206925.3:c.875-1G>A | NP_996808.1:n.875-1G>A |